Opsoclonus-myoclonus in Aicardi-Goutières syndrome

Salam Alburaiky, Russell C Dale, Yanick J Crow, Hannah F Jones, Evangeline Wassmer, Isabelle Melki, Odile Boespflug-Tanguy, Jeremy Do Cao, Domitille Gras, Cynthia Sharpe

Research output: Contribution to journalArticlepeer-review


Aicardi-Goutières syndrome (AGS) is a rare genetic neuroinflammatory disorder caused by abnormal upregulation of type 1 interferon signalling. Opsoclonus-myoclonus syndrome is a rare autoimmune phenotype demonstrating a disturbance in the humoral immune response mostly seen in the context of paraneoplastic or postinfectious states, although its pathophysiology is incompletely understood. We report the first three children described with AGS demonstrating transient opsoclonus and myoclonus after irritability and/or developmental regression, suggesting a pathological association. We describe the presentation, clinical features, progress, cerebrospinal fluid (CSF) inflammatory markers, electroencephalogram (EEG), and magnetic resonance imaging (MRI) findings in these children. Two patients had developmental regression but demonstrated a positive response to JAK1/2 inhibition clinically and on serial examination of CSF inflammatory markers. These findings suggest that AGS should be considered in children presenting with opsoclonus-myoclonus, and that the association between AGS and opsoclonus-myoclonus further supports the role of immune dysregulation as causal in the rare neurological phenomenon opsoclonus and myoclonus.

Original languageEnglish
JournalDevelopmental Medicine & Child Neurology (DMCN)
Early online date21 Jun 2021
Publication statusE-pub ahead of print - 21 Jun 2021


Dive into the research topics of 'Opsoclonus-myoclonus in Aicardi-Goutières syndrome'. Together they form a unique fingerprint.

Cite this